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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.

Abstract : We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. © 2011 Wiley-Liss, Inc.
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https://www.hal.inserm.fr/inserm-00588628
Contributor : Andre Megarbane <>
Submitted on : Monday, April 25, 2011 - 9:09:54 AM
Last modification on : Wednesday, August 19, 2020 - 12:08:09 PM

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André Mégarbané, Eliane Chouery, Cecile Mignon-Ravix, Sandra El Sabbagh, Sandra Corbani, et al.. Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.. American Journal of Medical Genetics Part A, Wiley, 2011, 155 (5), pp.1147-51. ⟨10.1002/ajmg.a.33938⟩. ⟨inserm-00588628⟩

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